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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-2073341-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=2073341&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 2073341,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_003970.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "NM_003970.4",
"protein_id": "NP_003961.3",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1465,
"cds_start": 961,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262113.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003970.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000262113.9",
"protein_id": "ENSP00000262113.4",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 1465,
"cds_start": 961,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003970.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262113.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000887732.1",
"protein_id": "ENSP00000557791.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1496,
"cds_start": 961,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887732.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000887733.1",
"protein_id": "ENSP00000557792.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1492,
"cds_start": 961,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887733.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953568.1",
"protein_id": "ENSP00000623627.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1492,
"cds_start": 961,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953568.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953575.1",
"protein_id": "ENSP00000623634.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1483,
"cds_start": 961,
"cds_end": null,
"cds_length": 4452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953575.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953574.1",
"protein_id": "ENSP00000623633.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1479,
"cds_start": 961,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953574.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000887731.1",
"protein_id": "ENSP00000557790.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1465,
"cds_start": 961,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887731.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000887736.1",
"protein_id": "ENSP00000557795.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1465,
"cds_start": 961,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887736.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953567.1",
"protein_id": "ENSP00000623626.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1465,
"cds_start": 961,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953567.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953572.1",
"protein_id": "ENSP00000623631.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1465,
"cds_start": 961,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953572.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953573.1",
"protein_id": "ENSP00000623632.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1465,
"cds_start": 961,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953573.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953580.1",
"protein_id": "ENSP00000623639.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1465,
"cds_start": 961,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953580.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953581.1",
"protein_id": "ENSP00000623640.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1465,
"cds_start": 961,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953581.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953582.1",
"protein_id": "ENSP00000623641.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1465,
"cds_start": 961,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953582.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000887734.1",
"protein_id": "ENSP00000557793.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1456,
"cds_start": 961,
"cds_end": null,
"cds_length": 4371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887734.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000887735.1",
"protein_id": "ENSP00000557794.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1451,
"cds_start": 961,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887735.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953577.1",
"protein_id": "ENSP00000623636.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1450,
"cds_start": 961,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953577.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953569.1",
"protein_id": "ENSP00000623628.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1433,
"cds_start": 961,
"cds_end": null,
"cds_length": 4302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953569.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000953576.1",
"protein_id": "ENSP00000623635.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1398,
"cds_start": 961,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953576.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM2",
"gene_hgnc_id": 7614,
"hgvs_c": "c.664G>C",
"hgvs_p": "p.Val222Leu",
"transcript": "ENST00000953579.1",
"protein_id": "ENSP00000623638.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 1393,
"cds_start": 664,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953579.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
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{
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{
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{
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],
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"biotype": "protein_coding",
"feature": "ENST00000953578.1"
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],
"gene_symbol": "MYOM2",
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"dbsnp": "rs2272720",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43066537380218506,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
"alphamissense_score": 0.2935,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.972,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003970.4",
"gene_symbol": "MYOM2",
"hgnc_id": 7614,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}